Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691026
rs1131691026
3 0.925 0.160 17 7675174 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1206165503
rs1206165503
2 0.925 0.160 17 7675175 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012